Detailed Information on Marinesco-Sjogren syndrome
Posted on October 30, 2008 - Filed Under Uncategorized | Leave a Comment
Marinesco-Sjogren syndrome can be related with mutations of the SIL1 gene, and a mutation can be found in about 50% of cases.
Marinesco-Sjögren syndrome is a unusual autosomal recessive disorder characterized by cerebellar atrophy, ataxia, cataracts, short stature and varying degrees of mental retardation. The illness is usually evident at birth because of hypotonia (floppiness). The cataracts appear during childhood. Motor milestones are delayed with ataxia apparent by the time the child can sit. Most patients are eventually able to ambulate with a walker. Mental retardation is usually mild to moderate in severity.
Detailed Information on Moebius syndrome
Posted on October 26, 2008 - Filed Under Uncategorized | 1 Comment
Moebius syndrome is thought to be genetic, and most cases are sporadic, occurring once in a family. The recurrence risk is thought to be extremely low, and one source has quoted it to be 2%.
Moebius Syndrome is an extremely rare condition which typically affects the sixth and seventh cranial nerves. These nerves affect the face and eye muscles. Other cranial nerves may be affected, especially the 3rd, 4th, 5th, 9th, 10th and 12th. There may be skeletal involvement causing hand/feet anomalies and/or club feet. Limb and chest wall abnormalities sometimes occur with the syndrome. Most people with Möbius syndrome are born with complete facial paralysis, which means they cannot close their eyes or form facial expression. The first symptom of Moebius syndrome, baby may also have difficulty sucking.
